Patient | Age | Clinical features | Family history | Mutation | Previously reported | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
HAB | Other | ||||||||||
D24 | 44 | Solitary cerebellar | — | — | P81S | 21, 30, 35 | |||||
B1 | 29 | Solitary cerebellar | Subsequent pancreatic cysts | — | del 582 GACACAC | No | |||||
B2 | 36 | Solitary cerebellar | — | — | Deletion | NA | |||||
B5 | 40 | Cerebellar & medullary | — | — | Deletion | NA | |||||
B6 | 44 | Multiple spinal | — | — | Deletion | NA |
Patient: patient's ID; Age: age at diagnosis, in years; HAB: type and origin of haemangioblastoma; Other: further VHL associated manifestations after clinical screening; Family history: further VHL associated manifestations in family members of proband; Mutation: VHL germline mutation; Previously reported: whether the mutation has been published (references); NA: not applicable.